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Items: 1 to 20 of 322

1.

Age at first birth in women is genetically associated with increased risk of schizophrenia.

Ni G, Gratten J, Wray NR, Lee SH; Schizophrenia Working Group of the Psychiatric Genomics Consortium.

Sci Rep. 2018 Jul 5;8(1):10168. doi: 10.1038/s41598-018-28160-z.

2.

Long-term evolution of patient-reported outcome measures in spinocerebellar ataxias.

Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, Parkinson MH, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Sarro L, Rakowicz M, Sulek A, Sobanska A, Schmitz-Hübsch T, Schöls L, Hengel H, Baliko L, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Szymanski S, Boesch S, Nachbauer W, Kang JS, Pandolfo M, Schulz JB, Melac AT, Diallo A, Klockgether T.

J Neurol. 2018 Jun 29. doi: 10.1007/s00415-018-8954-0. [Epub ahead of print]

PMID:
29959555
3.

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes.

Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium. Electronic address: douglas.ruderfer@vanderbilt.edu; Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium.

Cell. 2018 Jun 14;173(7):1705-1715.e16. doi: 10.1016/j.cell.2018.05.046.

PMID:
29906448
4.

Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood.

Ni G, Moser G; Schizophrenia Working Group of the Psychiatric Genomics Consortium, Wray NR, Lee SH.

Am J Hum Genet. 2018 Jun 7;102(6):1185-1194. doi: 10.1016/j.ajhg.2018.03.021. Epub 2018 May 10.

5.

Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.

Sirchia F, Carrieri D, Dheensa S, Benjamin C, Kayserili H, Cordier C, van El CG, Turnpenny PD, Melegh B, Mendes Á, Halbersma-Konings TF, van Langen IM, Lucassen AM, Clarke AJ, Forzano F, Kelly SE.

Eur J Hum Genet. 2018 Jul;26(7):946-954. doi: 10.1038/s41431-018-0131-5. Epub 2018 Apr 23.

PMID:
29681620
6.

Variation in general supportive and preventive intensive care management of traumatic brain injury: a survey in 66 neurotrauma centers participating in the Collaborative European NeuroTrauma Effectiveness Research in Traumatic Brain Injury (CENTER-TBI) study.

Huijben JA, Volovici V, Cnossen MC, Haitsma IK, Stocchetti N, Maas AIR, Menon DK, Ercole A, Citerio G, Nelson D, Polinder S, Steyerberg EW, Lingsma HF, van der Jagt M; CENTER-TBI investigators and participants.

Crit Care. 2018 Apr 13;22(1):90. doi: 10.1186/s13054-018-2000-6.

7.

Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study.

Diallo A, Jacobi H, Cook A, Labrum R, Durr A, Brice A, Charles P, Marelli C, Mariotti C, Nanetti L, Panzeri M, Rakowicz M, Sobanska A, Sulek A, Schmitz-Hübsch T, Schöls L, Hengel H, Melegh B, Filla A, Antenora A, Infante J, Berciano J, van de Warrenburg BP, Timmann D, Boesch S, Pandolfo M, Schulz JB, Bauer P, Giunti P, Kang JS, Klockgether T, Tezenas du Montcel S.

Lancet Neurol. 2018 Apr;17(4):327-334. doi: 10.1016/S1474-4422(18)30042-5. Epub 2018 Mar 13.

PMID:
29553382
8.

Role of carnitine and its derivatives in the development and management of type 2 diabetes.

Bene J, Hadzsiev K, Melegh B.

Nutr Diabetes. 2018 Mar 7;8(1):8. doi: 10.1038/s41387-018-0017-1. Review.

9.

Age-Related Hearing Impairment Associated NAT2, GRM7, GRHL2 Susceptibility Gene Polymorphisms and Haplotypes in Roma and Hungarian Populations.

Matyas P, Postyeni E, Komlosi K, Szalai R, Bene J, Magyari L, Melegh B, Hadzsiev K.

Pathol Oncol Res. 2018 Feb 17. doi: 10.1007/s12253-018-0388-6. [Epub ahead of print]

PMID:
29455378
10.

Correction to: Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.

Bánfai Z, Hadzsiev K, Pál E, Komlósi K, Melegh M, Balikó L, Melegh B.

BMC Med Genet. 2017 Dec 16;18(1):150. doi: 10.1186/s12881-017-0510-8.

11.

Small supernumerary marker chromosome 15 and a ring chromosome 15 associated with a 15q26.3 deletion excluding the IGF1R gene.

Szabó A, Czakó M, Hadzsiev K, Duga B, Bánfai Z, Komlósi K, Melegh B.

Am J Med Genet A. 2018 Feb;176(2):443-449. doi: 10.1002/ajmg.a.38566. Epub 2017 Dec 11.

PMID:
29226546
12.

[Rhabdomyolysis - may it be a metabolic myopathy? Case report and diagnostic algorithm].

Sebők Á, Pál E, Molnár GA, Wittmann I, Berenténé Bene J, Melegh B, Komoly S, Hidvégi T, Balogh L, Szabó A, Zsidegh P.

Orv Hetil. 2017 Nov;158(47):1873-1882. doi: 10.1556/650.2017.30923. Hungarian.

PMID:
29153022
13.

Parallel palaeogenomic transects reveal complex genetic history of early European farmers.

Lipson M, Szécsényi-Nagy A, Mallick S, Pósa A, Stégmár B, Keerl V, Rohland N, Stewardson K, Ferry M, Michel M, Oppenheimer J, Broomandkhoshbacht N, Harney E, Nordenfelt S, Llamas B, Gusztáv Mende B, Köhler K, Oross K, Bondár M, Marton T, Osztás A, Jakucs J, Paluch T, Horváth F, Csengeri P, Koós J, Sebők K, Anders A, Raczky P, Regenye J, Barna JP, Fábián S, Serlegi G, Toldi Z, Gyöngyvér Nagy E, Dani J, Molnár E, Pálfi G, Márk L, Melegh B, Bánfai Z, Domboróczki L, Fernández-Eraso J, Antonio Mujika-Alustiza J, Alonso Fernández C, Jiménez Echevarría J, Bollongino R, Orschiedt J, Schierhold K, Meller H, Cooper A, Burger J, Bánffy E, Alt KW, Lalueza-Fox C, Haak W, Reich D.

Nature. 2017 Nov 16;551(7680):368-372. doi: 10.1038/nature24476. Epub 2017 Nov 8.

14.

Traumatic brain injury: integrated approaches to improve prevention, clinical care, and research.

Maas AIR, Menon DK, Adelson PD, Andelic N, Bell MJ, Belli A, Bragge P, Brazinova A, Büki A, Chesnut RM, Citerio G, Coburn M, Cooper DJ, Crowder AT, Czeiter E, Czosnyka M, Diaz-Arrastia R, Dreier JP, Duhaime AC, Ercole A, van Essen TA, Feigin VL, Gao G, Giacino J, Gonzalez-Lara LE, Gruen RL, Gupta D, Hartings JA, Hill S, Jiang JY, Ketharanathan N, Kompanje EJO, Lanyon L, Laureys S, Lecky F, Levin H, Lingsma HF, Maegele M, Majdan M, Manley G, Marsteller J, Mascia L, McFadyen C, Mondello S, Newcombe V, Palotie A, Parizel PM, Peul W, Piercy J, Polinder S, Puybasset L, Rasmussen TE, Rossaint R, Smielewski P, Söderberg J, Stanworth SJ, Stein MB, von Steinbüchel N, Stewart W, Steyerberg EW, Stocchetti N, Synnot A, Te Ao B, Tenovuo O, Theadom A, Tibboel D, Videtta W, Wang KKW, Williams WH, Wilson L, Yaffe K; InTBIR Participants and Investigators.

Lancet Neurol. 2017 Dec;16(12):987-1048. doi: 10.1016/S1474-4422(17)30371-X. Epub 2017 Nov 6. Review. No abstract available.

PMID:
29122524
15.

CYP2C9 and VKORC1 in therapeutic dosing and safety of acenocoumarol treatment: implication for clinical practice in Hungary.

Varnai R, Sipeky C, Nagy L, Balogh S, Melegh B.

Environ Toxicol Pharmacol. 2017 Dec;56:282-289. doi: 10.1016/j.etap.2017.10.003. Epub 2017 Oct 8.

PMID:
29055218
16.

[Neuroacanthocytosis diagnosis with new generation whole exome sequencing].

Hadzsiev K, Szőts M, Fekete A, Balikó L, Boycott K, Nagy F, Melegh B.

Orv Hetil. 2017 Oct;158(42):1681-1684. doi: 10.1556/650.2017.30880. Hungarian.

PMID:
29037056
17.

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.

Bánfai Z, Hadzsiev K, Pál E, Komlósi K, Melegh M, Balikó L, Melegh B.

BMC Med Genet. 2017 Sep 19;18(1):105. doi: 10.1186/s12881-017-0463-y. Erratum in: BMC Med Genet. 2017 Dec 16;18(1):150.

18.

Variation in monitoring and treatment policies for intracranial hypertension in traumatic brain injury: a survey in 66 neurotrauma centers participating in the CENTER-TBI study.

Cnossen MC, Huijben JA, van der Jagt M, Volovici V, van Essen T, Polinder S, Nelson D, Ercole A, Stocchetti N, Citerio G, Peul WC, Maas AIR, Menon D, Steyerberg EW, Lingsma HF; CENTER-TBI investigators.

Crit Care. 2017 Sep 6;21(1):233. doi: 10.1186/s13054-017-1816-9.

19.

Refining the South Asian Origin of the Romani people.

Melegh BI, Banfai Z, Hadzsiev K, Miseta A, Melegh B.

BMC Genet. 2017 Aug 31;18(1):82. doi: 10.1186/s12863-017-0547-x.

20.

[Importance of gross deletions in the diagnosis of tuberous sclerosis complex: the first Hungarian cases].

Kövesdi E, Bene J, Nagy N, Horváth Á, Melegh B, Hadzsiev K.

Orv Hetil. 2017 Jul;158(30):1188-1194. doi: 10.1556/650.2017.30789. Hungarian.

PMID:
28737457

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